Idiopathic Intracranial Hypertension in a Mother and Pre-pubertal Twins

Idiopathic intracranial hypertension is a syndrome of elevated intracranial pressure without an identifiable cause. The majority of cases appear to be sporadic, and incidence is highest in obese women of childbearing age. The role of genetics in the pathophysiology of the disease is unclear, and familial cases are rare. We report a familial occurrence in a mother and her twin, 5-year-old sons.     

Psychiatric genetics researchers' views on offering return of results to individual participants

In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome‐wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision‐making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR.     

Cystic fibrosis in the year 2020: A disease with a new face

The autosomal recessive disease cystic fibrosis (CF) was once untreatable and deadly in childhood, but now most patients survive to adulthood. Many countries have instituted CF newborn screening because early diagnosis improves outcome. CF research has greatly intensified following the discovery of the CF transmembrane conductance regulator (CFTR) gene, which has more than 2000 different mutations. For patients with common mutations like F508del, CFTR modulators are life transforming and may even prevent major complications if started early in childhood. For some patients with rare CFTR mutations, a treatment path still needs to be developed. Conclusion: This review provides a general update on CF, including screening and current and future treatment.     

The Clitoris—An Appraisal of its Reproductive Function During the Fertile Years: Why Was It,and Still Is,Overlooked in Accounts of Female Sexual Arousal

Stimulating the clitoris activates the brain to instigate changes in the female genital tract, namely, the enhancement of vaginal blood flow that increases vaginal luminal pO₂, vaginal transudate (lubrication) facilitating painless penile penetration and partial neutralization of the basal luminal acidic pH, vaginal tenting, and ballooning delaying sperm transport and allowing semen de-coagulation and capacitation (sperm activation) factors to act until arousal ends (often by orgasm induction). All these genital changes taken together are of major importance in facilitating the possibility of reproductive success (and thus gene propagation) no matter how or when the clitoris is stimulated—they reveal its overlooked reproductive function. Of course, also commensurate with these changes, is its activation of sexual pleasure. The clitoris thus has both procreative (reproductive) and recreative (pleasure) functions of equal importance. Clitoridectomy creates not only sexual disability but also a reproductive disability. Clin. Anat. 32:136–145, 2019. © 2019 Wiley Periodicals, Inc.     

HLA-DRB1等位基因与广东汉族人群甲真菌病的相关性研究

 目的:探讨人类白细胞抗原HLA DRB1等位基因与广东汉族人群甲真菌病的关联性。方法：纳入64例广东汉族甲真菌病患者(包括10例红色毛癣菌甲癣患者)以及64例健康对照者，采用聚合酶链式反应-序列特异性引物（PCR-SSP）技术，对研究对象全血基因DNA进行HLA DRB等位基因分型，比较等位基因频率，分析甲真菌病与HLA基因多态性的关系。结果：甲真菌病患者HLA-DRB1*10基因频率高于健康对照组（ X²=5.10,P<0.05）。红色毛癣菌感染的甲癣患者组HLA DRB1*12基因频率低于健康对照组（  X²=4.70,P<0.05）。结论：HLA-DRB1*10等位基因可能是广东汉族人群甲真菌病遗传易感基因，而HLA-DRB1*12等位基因可能是红色毛癣菌感染的甲真菌病患者的保护性基因，HLA基因多态性与甲真菌病的发生可能存在遗传免疫关联性。     

A case of body dysmorphic disorder in an adolescent with hypohidrotic ectodermal dysplasia

We report the case of an adolescent with hypohidrotic ectodermal dysplasia, who had obsessive-compulsive disorder and was later diagnosed with body dysmorphic disorder (BDD). BDD is a highly distressing, adolescent-onset disorder that may lead to social isolation, the development of comorbid mental health disorders and suicidality. Patients typically lack insight into their BDD and frequently present to dermatologists for medical treatment. In this paper, we address the challenges faced when working with patients with BDD.     

Filling in the gaps on FILS syndrome: A case report and literature review

FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.